The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
about
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypesA novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosaAn incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindredEpidermolysis bullosa pruriginosa: a systematic review exploring genotype-phenotype correlation.Scanning electron microscopy of a blister roof in dystrophic epidermolysis bullosa.Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy.
P2860
The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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name
The G2028R glycine substitutio ...... trophic epidermolysis bullosa.
@en
The G2028R glycine substitutio ...... trophic epidermolysis bullosa.
@nl
type
label
The G2028R glycine substitutio ...... trophic epidermolysis bullosa.
@en
The G2028R glycine substitutio ...... trophic epidermolysis bullosa.
@nl
prefLabel
The G2028R glycine substitutio ...... trophic epidermolysis bullosa.
@en
The G2028R glycine substitutio ...... trophic epidermolysis bullosa.
@nl
P2093
P1476
The G2028R glycine substitutio ...... trophic epidermolysis bullosa.
@en
P2093
Daisuke Sawamura
Hiroshi Shimizu
Hiroyuki Nakamura
Jeffrey LaDuca
Julia Yu-Yun Lee
Kazuko C Sato-Matsumura
Takuji Masunaga
P304
P356
10.1016/J.JDERMSCI.2004.02.005
P577
2004-05-01T00:00:00Z